Chr Mutation (hg38) CAid Gene Transcript Linkouts
5g.36985953A>CCA359504981NIPBLc.2773A>C (p.Lys925Gln)
c.2029A>C (p.Lys677Gln)
c.2113A>C (p.Lys705Gln)
c.1156A>C (p.Lys386Gln)
c.1495+9551A>C (p.=)
n.2393A>C
c.1-78625A>C (p.=)
5g.36985953A>GCA359504983NIPBLc.2773A>G (p.Lys925Glu)
c.2029A>G (p.Lys677Glu)
c.2113A>G (p.Lys705Glu)
c.1156A>G (p.Lys386Glu)
c.1495+9551A>G (p.=)
n.2393A>G
c.1-78625A>G (p.=)
5g.36985953A>TCA359504980NIPBLc.2773A>T (p.Lys925Ter)
c.2029A>T (p.Lys677Ter)
c.2113A>T (p.Lys705Ter)
c.1156A>T (p.Lys386Ter)
c.1495+9551A>T (p.=)
n.2393A>T
c.1-78625A>T (p.=)
5g.36985953_36985954delCA272031NIPBLc.2773_2774del (p.Lys925GlufsTer2)
c.2029_2030del (p.Lys677GlufsTer2)
c.2113_2114del (p.Lys705GlufsTer2)
c.1156_1157del (p.Lys386GlufsTer2)
c.1495+9551_1495+9552del (p.=)
n.2393_2394del
c.1-78625_1-78624del (p.=)
ClinVar dbSNP
5g.36985954A>CCA359504993NIPBLc.2774A>C (p.Lys925Thr)
c.2030A>C (p.Lys677Thr)
c.2114A>C (p.Lys705Thr)
c.1157A>C (p.Lys386Thr)
c.1495+9552A>C (p.=)
n.2394A>C
c.1-78624A>C (p.=)
5g.36985954A>GCA359504991NIPBLc.2774A>G (p.Lys925Arg)
c.2030A>G (p.Lys677Arg)
c.2114A>G (p.Lys705Arg)
c.1157A>G (p.Lys386Arg)
c.1495+9552A>G (p.=)
n.2394A>G
c.1-78624A>G (p.=)
gnomAD
5g.36985954A>TCA359504992NIPBLc.2774A>T (p.Lys925Met)
c.2030A>T (p.Lys677Met)
c.2114A>T (p.Lys705Met)
c.1157A>T (p.Lys386Met)
c.1495+9552A>T (p.=)
n.2394A>T
c.1-78624A>T (p.=)
5g.36985955G>ACA444096290NIPBLc.2775G>A (p.Lys925=)
c.2031G>A (p.Lys677=)
c.2115G>A (p.Lys705=)
c.1158G>A (p.Lys386=)
c.1495+9553G>A (p.=)
n.2395G>A
c.1-78623G>A (p.=)
5g.36985955G>CCA359504994NIPBLc.2775G>C (p.Lys925Asn)
c.2031G>C (p.Lys677Asn)
c.2115G>C (p.Lys705Asn)
c.1158G>C (p.Lys386Asn)
c.1495+9553G>C (p.=)
n.2395G>C
c.1-78623G>C (p.=)
gnomAD
5g.36985955G>TCA359504995NIPBLc.2775G>T (p.Lys925Asn)
c.2031G>T (p.Lys677Asn)
c.2115G>T (p.Lys705Asn)
c.1158G>T (p.Lys386Asn)
c.1495+9553G>T (p.=)
n.2395G>T
c.1-78623G>T (p.=)
5g.36985956A>CCA359504998NIPBLc.2776A>C (p.Ser926Arg)
c.2032A>C (p.Ser678Arg)
c.2116A>C (p.Ser706Arg)
c.1159A>C (p.Ser387Arg)
c.1495+9554A>C (p.=)
n.2396A>C
c.1-78622A>C (p.=)
5g.36985956A>GCA359505000NIPBLc.2776A>G (p.Ser926Gly)
c.2032A>G (p.Ser678Gly)
c.2116A>G (p.Ser706Gly)
c.1159A>G (p.Ser387Gly)
c.1495+9554A>G (p.=)
n.2396A>G
c.1-78622A>G (p.=)
5g.36985956A>TCA359505002NIPBLc.2776A>T (p.Ser926Cys)
c.2032A>T (p.Ser678Cys)
c.2116A>T (p.Ser706Cys)
c.1159A>T (p.Ser387Cys)
c.1495+9554A>T (p.=)
n.2396A>T
c.1-78622A>T (p.=)
5g.36985957G>ACA359505040NIPBLc.2777G>A (p.Ser926Asn)
c.2033G>A (p.Ser678Asn)
c.2117G>A (p.Ser706Asn)
c.1160G>A (p.Ser387Asn)
c.1495+9555G>A (p.=)
n.2397G>A
c.1-78621G>A (p.=)
5g.36985957G>CCA359505050NIPBLc.2777G>C (p.Ser926Thr)
c.2033G>C (p.Ser678Thr)
c.2117G>C (p.Ser706Thr)
c.1160G>C (p.Ser387Thr)
c.1495+9555G>C (p.=)
n.2397G>C
c.1-78621G>C (p.=)
5g.36985957G>TCA359505053NIPBLc.2777G>T (p.Ser926Ile)
c.2033G>T (p.Ser678Ile)
c.2117G>T (p.Ser706Ile)
c.1160G>T (p.Ser387Ile)
c.1495+9555G>T (p.=)
n.2397G>T
c.1-78621G>T (p.=)
5g.36985958T>ACA359505061NIPBLc.2778T>A (p.Ser926Arg)
c.2034T>A (p.Ser678Arg)
c.2118T>A (p.Ser706Arg)
c.1161T>A (p.Ser387Arg)
c.1495+9556T>A (p.=)
n.2398T>A
c.1-78620T>A (p.=)
5g.36985958T>CCA444096291NIPBLc.2778T>C (p.Ser926=)
c.2034T>C (p.Ser678=)
c.2118T>C (p.Ser706=)
c.1161T>C (p.Ser387=)
c.1495+9556T>C (p.=)
n.2398T>C
c.1-78620T>C (p.=)
5g.36985958T>GCA359505070NIPBLc.2778T>G (p.Ser926Arg)
c.2034T>G (p.Ser678Arg)
c.2118T>G (p.Ser706Arg)
c.1161T>G (p.Ser387Arg)
c.1495+9556T>G (p.=)
n.2398T>G
c.1-78620T>G (p.=)
5g.36985959A>CCA359505105NIPBLc.2779A>C (p.Lys927Gln)
c.2035A>C (p.Lys679Gln)
c.2119A>C (p.Lys707Gln)
c.1162A>C (p.Lys388Gln)
c.1495+9557A>C (p.=)
n.2399A>C
c.1-78619A>C (p.=)
5g.36985959A>GCA117045066NIPBLc.2779A>G (p.Lys927Glu)
c.2035A>G (p.Lys679Glu)
c.2119A>G (p.Lys707Glu)
c.1162A>G (p.Lys388Glu)
c.1495+9557A>G (p.=)
n.2399A>G
c.1-78619A>G (p.=)
dbSNP
5g.36985959A>TCA359505089NIPBLc.2779A>T (p.Lys927Ter)
c.2035A>T (p.Lys679Ter)
c.2119A>T (p.Lys707Ter)
c.1162A>T (p.Lys388Ter)
c.1495+9557A>T (p.=)
n.2399A>T
c.1-78619A>T (p.=)
5g.36985960A>CCA359505110NIPBLc.2780A>C (p.Lys927Thr)
c.2036A>C (p.Lys679Thr)
c.2120A>C (p.Lys707Thr)
c.1163A>C (p.Lys388Thr)
c.1495+9558A>C (p.=)
n.2400A>C
c.1-78618A>C (p.=)
5g.36985960A>GCA359505116NIPBLc.2780A>G (p.Lys927Arg)
c.2036A>G (p.Lys679Arg)
c.2120A>G (p.Lys707Arg)
c.1163A>G (p.Lys388Arg)
c.1495+9558A>G (p.=)
n.2400A>G
c.1-78618A>G (p.=)
5g.36985960A>TCA359505122NIPBLc.2780A>T (p.Lys927Ile)
c.2036A>T (p.Lys679Ile)
c.2120A>T (p.Lys707Ile)
c.1163A>T (p.Lys388Ile)
c.1495+9558A>T (p.=)
n.2400A>T
c.1-78618A>T (p.=)
5g.36985961A>CCA359505124NIPBLc.2781A>C (p.Lys927Asn)
c.2037A>C (p.Lys679Asn)
c.2121A>C (p.Lys707Asn)
c.1164A>C (p.Lys388Asn)
c.1495+9559A>C (p.=)
n.2401A>C
c.1-78617A>C (p.=)
5g.36985961A>GCA117045071NIPBLc.2781A>G (p.Lys927=)
c.2037A>G (p.Lys679=)
c.2121A>G (p.Lys707=)
c.1164A>G (p.Lys388=)
c.1495+9559A>G (p.=)
n.2401A>G
c.1-78617A>G (p.=)
dbSNP
5g.36985961A>TCA359505137NIPBLc.2781A>T (p.Lys927Asn)
c.2037A>T (p.Lys679Asn)
c.2121A>T (p.Lys707Asn)
c.1164A>T (p.Lys388Asn)
c.1495+9559A>T (p.=)
n.2401A>T
c.1-78617A>T (p.=)
5g.36985962G>ACA3236225NIPBLc.2782G>A (p.Val928Ile)
c.2038G>A (p.Val680Ile)
c.2122G>A (p.Val708Ile)
c.1165G>A (p.Val389Ile)
c.1495+9560G>A (p.=)
n.2402G>A
c.1-78616G>A (p.=)
dbSNP ExAC gnomAD
5g.36985962G>CCA359505145NIPBLc.2782G>C (p.Val928Leu)
c.2038G>C (p.Val680Leu)
c.2122G>C (p.Val708Leu)
c.1165G>C (p.Val389Leu)
c.1495+9560G>C (p.=)
n.2402G>C
c.1-78616G>C (p.=)
5g.36985962G>TCA359505148NIPBLc.2782G>T (p.Val928Leu)
c.2038G>T (p.Val680Leu)
c.2122G>T (p.Val708Leu)
c.1165G>T (p.Val389Leu)
c.1495+9560G>T (p.=)
n.2402G>T
c.1-78616G>T (p.=)
5g.36985963T>ACA359505154NIPBLc.2783T>A (p.Val928Glu)
c.2039T>A (p.Val680Glu)
c.2123T>A (p.Val708Glu)
c.1166T>A (p.Val389Glu)
c.1495+9561T>A (p.=)
n.2403T>A
c.1-78615T>A (p.=)
5g.36985963T>CCA359505162NIPBLc.2783T>C (p.Val928Ala)
c.2039T>C (p.Val680Ala)
c.2123T>C (p.Val708Ala)
c.1166T>C (p.Val389Ala)
c.1495+9561T>C (p.=)
n.2403T>C
c.1-78615T>C (p.=)
5g.36985963T>GCA359505170NIPBLc.2783T>G (p.Val928Gly)
c.2039T>G (p.Val680Gly)
c.2123T>G (p.Val708Gly)
c.1166T>G (p.Val389Gly)
c.1495+9561T>G (p.=)
n.2403T>G
c.1-78615T>G (p.=)
5g.36985964A>CCA444096297NIPBLc.2784A>C (p.Val928=)
c.2040A>C (p.Val680=)
c.2124A>C (p.Val708=)
c.1167A>C (p.Val389=)
c.1495+9562A>C (p.=)
n.2404A>C
c.1-78614A>C (p.=)
5g.36985964A>GCA444096299NIPBLc.2784A>G (p.Val928=)
c.2040A>G (p.Val680=)
c.2124A>G (p.Val708=)
c.1167A>G (p.Val389=)
c.1495+9562A>G (p.=)
n.2404A>G
c.1-78614A>G (p.=)
5g.36985964A>TCA444096300NIPBLc.2784A>T (p.Val928=)
c.2040A>T (p.Val680=)
c.2124A>T (p.Val708=)
c.1167A>T (p.Val389=)
c.1495+9562A>T (p.=)
n.2404A>T
c.1-78614A>T (p.=)
5g.36985965G>ACA359505197NIPBLc.2785G>A (p.Asp929Asn)
c.2041G>A (p.Asp681Asn)
c.2125G>A (p.Asp709Asn)
c.1168G>A (p.Asp390Asn)
c.1495+9563G>A (p.=)
n.2405G>A
c.1-78613G>A (p.=)
5g.36985965G>CCA359505199NIPBLc.2785G>C (p.Asp929His)
c.2041G>C (p.Asp681His)
c.2125G>C (p.Asp709His)
c.1168G>C (p.Asp390His)
c.1495+9563G>C (p.=)
n.2405G>C
c.1-78613G>C (p.=)
COSMIC COSMIC
5g.36985965G>TCA359505191NIPBLc.2785G>T (p.Asp929Tyr)
c.2041G>T (p.Asp681Tyr)
c.2125G>T (p.Asp709Tyr)
c.1168G>T (p.Asp390Tyr)
c.1495+9563G>T (p.=)
n.2405G>T
c.1-78613G>T (p.=)
gnomAD
5g.36985966A>CCA359505204NIPBLc.2786A>C (p.Asp929Ala)
c.2042A>C (p.Asp681Ala)
c.2126A>C (p.Asp709Ala)
c.1169A>C (p.Asp390Ala)
c.1495+9564A>C (p.=)
n.2406A>C
c.1-78612A>C (p.=)
5g.36985966A>GCA359505208NIPBLc.2786A>G (p.Asp929Gly)
c.2042A>G (p.Asp681Gly)
c.2126A>G (p.Asp709Gly)
c.1169A>G (p.Asp390Gly)
c.1495+9564A>G (p.=)
n.2406A>G
c.1-78612A>G (p.=)
5g.36985966A>TCA359505209NIPBLc.2786A>T (p.Asp929Val)
c.2042A>T (p.Asp681Val)
c.2126A>T (p.Asp709Val)
c.1169A>T (p.Asp390Val)
c.1495+9564A>T (p.=)
n.2406A>T
c.1-78612A>T (p.=)
5g.36985967C>ACA359505210NIPBLc.2787C>A (p.Asp929Glu)
c.2043C>A (p.Asp681Glu)
c.2127C>A (p.Asp709Glu)
c.1170C>A (p.Asp390Glu)
c.1495+9565C>A (p.=)
n.2407C>A
c.1-78611C>A (p.=)
5g.36985967C>GCA359505212NIPBLc.2787C>G (p.Asp929Glu)
c.2043C>G (p.Asp681Glu)
c.2127C>G (p.Asp709Glu)
c.1170C>G (p.Asp390Glu)
c.1495+9565C>G (p.=)
n.2407C>G
c.1-78611C>G (p.=)
5g.36985967C>TCA444096304NIPBLc.2787C>T (p.Asp929=)
c.2043C>T (p.Asp681=)
c.2127C>T (p.Asp709=)
c.1170C>T (p.Asp390=)
c.1495+9565C>T (p.=)
n.2407C>T
c.1-78611C>T (p.=)
5g.36985968A>CCA359505237NIPBLc.2788A>C (p.Thr930Pro)
c.2044A>C (p.Thr682Pro)
c.2128A>C (p.Thr710Pro)
c.1171A>C (p.Thr391Pro)
c.1495+9566A>C (p.=)
n.2408A>C
c.1-78610A>C (p.=)
5g.36985968A>GCA3236226NIPBLc.2788A>G (p.Thr930Ala)
c.2044A>G (p.Thr682Ala)
c.2128A>G (p.Thr710Ala)
c.1171A>G (p.Thr391Ala)
c.1495+9566A>G (p.=)
n.2408A>G
c.1-78610A>G (p.=)
dbSNP ExAC gnomAD
5g.36985968A>TCA359505224NIPBLc.2788A>T (p.Thr930Ser)
c.2044A>T (p.Thr682Ser)
c.2128A>T (p.Thr710Ser)
c.1171A>T (p.Thr391Ser)
c.1495+9566A>T (p.=)
n.2408A>T
c.1-78610A>T (p.=)
5g.36985969C>ACA359505242NIPBLc.2789C>A (p.Thr930Asn)
c.2045C>A (p.Thr682Asn)
c.2129C>A (p.Thr710Asn)
c.1172C>A (p.Thr391Asn)
c.1495+9567C>A (p.=)
n.2409C>A
c.1-78609C>A (p.=)

Number of alleles fetched